Related gene-specific medical variations for Gene (Select 8553) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3260858	NM_003670.3(BHLHE40):c.32C>T (p.Pro11Leu)	BHLHE40, BHLHE40-AS1 (P11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338422	NM_003670.3(BHLHE40):c.32C>G (p.Pro11Arg)	BHLHE40, BHLHE40-AS1 (P11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 395176	GRCh37/hg19 3p26.1(chr3:5021459-5030941)x3	BHLHE40	Copy number gain	See cases	GLikely benign

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